Embryo Project Encyclopedia Articles

Wilhelm Johannsen in Denmark first proposed the distinction between genotype and phenotype in the study of heredity in 1909. This distinction is between the hereditary dispositions of organisms (their genotypes) and the ways in which those dispositions manifest themselves in the physical characteristics of those organisms (their phenotypes). This distinction was an outgrowth of Johannsen's experiments concerning heritable variation in plants, and it influenced his pure line theory of heredity. While the meaning and significance of the genotype-phenotype distinction has been a topic of debate-among Johannsen's contemporaries, later biological theorists, and historians of science-many consider the distinction one of the conceptual pillars of twentieth century genetics. Moreover some have used it to characterize the relationships between studies of development, genetics, and evolution.

In 1868 in England, Charles Darwin proposed his pangenesis theory to describe the units of inheritance between parents and offspring and the processes by which those units control development in offspring. Darwin coined the concept of gemmules, which he said referred to hypothesized minute particles of inheritance thrown off by all cells of the body. The theory suggested that an organism's environment could modify the gemmules in any parts of the body, and that these modified gemmules would congregate in the reproductive organs of parents to be passed on to their offspring. Darwin's theory of pangenesis gradually lost popularity in the 1890s when biologists increasingly abandoned the theory of inheritance of acquired characteristics (IAC), on which the pangenesis theory partially relied. Around the turn of the twentieth century, biologists replaced the theory of pangenesis with germ plasm theory and then with chromosomal theories of inheritance, and they replaced the concept of gemmules with that of genes.

Calvin Blackman Bridges studied chromosomes and heredity in the US throughout the early twentieth century. Bridges performed research with Thomas Hunt Morgan at Columbia University in New York City, New York, and at the California Institute of Technology in Pasadena, California. Bridges and Morgan studied heredity in Drosophila, the common fruit fly. Throughout the early twentieth century, researchers were gathering evidence that genes, or what Gregor Mendel had called the factors that control heredity, are located on chromosomes. At Columbia, Morgan disputed the theory, but in 1916, Calvin Bridges published evidence that, according to Morgan, did much to convince skeptics of that theory. Bridges also established that specific chromosomes function in determining sex in Drosophila.

Alfred Henry Sturtevant studied heredity in fruit flies in the US throughout the twentieth century. From 1910 to 1928, Sturtevant worked in Thomas Hunt Morgan’s research lab in New York City, New York. Sturtevant, Morgan, and other researchers established that chromosomes play a role in the inheritance of traits. In 1913, as an undergraduate, Sturtevant created one of the earliest genetic maps of a fruit fly chromosome, which showed the relative positions of genes along the chromosome. At the California Institute of Technology in Pasadena, California, he later created one of the first fate maps, which tracks embryonic cells throughout their development into an adult organism. Sturtevant’s contributions helped scientists explain genetic and cellular processes that affect early organismal development.

From 1913 to 1916, Calvin Bridges performed experiments that indicated genes are found on chromosomes. His experiments were a part of his doctoral thesis advised by Thomas Hunt Morgan in New York, New York. In his experiments, Bridges studied Drosophila, the common fruit fly, and by doing so showed that a process called nondisjunction caused chromosomes, under some circumstances, to fail to separate when forming sperm and egg cells. Nondisjunction, as described by Bridges, caused sperm or egg cells to contain abnormal amounts of chromosomes. In some cases, that caused the offspring produced by the sperm or eggs to display traits that they would typically not have. His research on nondisjunction provided evidence that chromosomes carry genetic traits, including those that determine the sex of an organism.

In 1910, Thomas Hunt Morgan performed an experiment at Columbia University, in New York City, New York, that helped identify the role chromosomes play in heredity. That year, Morgan was breeding Drosophila, or fruit flies. After observing thousands of fruit fly offspring with red eyes, he obtained one that had white eyes. Morgan began breeding the white-eyed mutant fly and found that in one generation of flies, the trait was only present in males. Through more breeding analysis, Morgan found that the genetic factor controlling eye color in the flies was on the same chromosome that determined sex. That result indicated that eye color and sex were both tied to chromosomes and helped Morgan and colleagues establish that chromosomes carry the genes that allow offspring to inherit traits from their parents.

In 1913, Alfred Henry Sturtevant published the results of experiments in which he showed how genes are arranged along a chromosome. Sturtevant performed those experiments as an undergraduate at Columbia University, in New York, New York, under the guidance of Nobel laureate Thomas Hunt Morgan. Sturtevant studied heredity using Drosophila, the common fruit fly. In his experiments, Sturtevant determined the relative positions of six genetic factors on a fly’s chromosome by creating a process called gene mapping. Sturtevant’s work on gene mapping inspired later mapping techniques in the twentieth and twenty-first centuries, techniques that helped scientists identify regions of the chromosome that when mutated cause organisms to develop abnormally and to create treatments to cure those kinds of disorders.

Leonard Colebrook was a physician who researched bacteria and infections in England during the twentieth century. In 1936, Colebrook deployed the antibiotic Prontosil to treat puerperal fever, a disorder that results from bacterial infections in the uterine tracts of women after childbirth or abortions. Colebrook also advanced care for burn patients by advocating for the creation of burn units in hospitals and by using antisepsis medication for burn wound infections. Colebrook’s work on treatments for puerperal fever reduced cases of puerperal fever throughout the world.

An intrauterine pressure catheter (IUPC) is a device placed inside a pregnant woman’s uterus to monitor uterine contractions during labor. During labor, a woman’s uterus contracts to dilate, or open, the cervix and push the fetus into the birth canal. The catheter measures the pressure within the amniotic space during contractions and allows physicians to evaluate the strength, frequency, and duration of contractions. Those measurements enable physicians to evaluate the progression of labor and intervene when contractions are too weak to properly dilate a laboring woman’s cervix to successfully deliver a fetus. Though IUPCs are not used routinely, they are important in cases where external fetal monitoring is not sufficient to monitor a difficult labor. Intrauterine pressure catheters give physicians an extremely accurate measurement of intrauterine pressure, making it possible to determine whether intervention is needed to progress the labor.

In 1955, obstetrician Edward Bishop, a physician specializing in childbirth, published the article “Elective Induction of Labor,” in which he proposed the best conditions for pregnant women to elect to induce, or begin, labor. Elective induction of labor requires an obstetrician to administer a drug to help a pregnant woman to start her contractions, and to rupture the fluid-filled sac surrounding the fetus called the amniotic sac. In the early 1950s, Bishop analyzed the results of one thousand elective inductions and discovered that some pregnant women had faster and easier deliveries with induced labor than other pregnant women. In “Elective Induction of Labor,” Bishop describes the characteristics an obstetrician can look for in a pregnant woman to determine if she can safely undergo an elective induction, metrics still used into the twenty-first century to determine whether or not to pursue elective inductions.